Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DDX27_chr20_49214416_49249073	49242717	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(237): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011	a0001c0004 a0001c0005 a0001c0006 others(7): Show a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0003c0003 a0004c0008 a0005c0010 a0007c0011 a0008c0015 a0011c0016	a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 others(8): Show a0001c0004t0001 a0001c0005t0001 a0001c0005t0003 a0001c0006t0002 a0002c0002t0001 a0003c0003t0001 a0004c0008t0001 a0005c0010t0001 a0007c0011t0001 a0008c0015t0002 a0011c0016t0001	a0001c0004t0001g0004 a0001c0004t0001g0009 a0001c0004t0001g0019 others(173): Show a0001c0004t0001g0004 a0001c0004t0001g0009 a0001c0004t0001g0019 a0001c0004t0001g0031 a0001c0004t0001g0053 a0001c0004t0001g0101 a0001c0004t0001g0102 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0150 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0160 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0255 a0001c0005t0001g0010 a0001c0005t0001g0017 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0005t0001g0079 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0005t0001g0083 a0001c0005t0001g0084 a0001c0005t0001g0085 a0001c0005t0001g0086 a0001c0005t0001g0087 a0001c0005t0001g0088 a0001c0005t0001g0089 a0001c0005t0001g0090 a0001c0005t0001g0091 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0094 a0001c0005t0001g0095 a0001c0005t0001g0096 a0001c0005t0001g0097 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0005t0001g0100 a0001c0005t0003g0080 a0001c0006t0002g0040 a0001c0006t0002g0256 a0001c0006t0002g0257 a0001c0006t0002g0258 a0001c0006t0002g0261 a0001c0006t0002g0262 a0001c0006t0002g0263 a0001c0006t0002g0264 a0001c0006t0002g0265 a0001c0006t0002g0266 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0214 a0003c0003t0001g0007 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0022 a0003c0003t0001g0039 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0267 a0004c0008t0001g0038 a0004c0008t0001g0217 a0005c0010t0001g0017 a0005c0010t0001g0018 a0007c0011t0001g0151 a0008c0015t0002g0260 a0011c0016t0001g0009	240	386	0.6218	-14	c.220 others(29): Show c.2204+46_2204+59delTTTTTTTTTTTTTT	DDX27	ENSG00000124228.15	transcript	ENST00000618172.5	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
DDX31_chr9_132587997_132674983	132632239	TGTACACA others(7): Show TGTACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp1 HG03098.hp1 others(2): Show HG02109.hp1 HG02970.hp1 HG03098.hp1 HG03486.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0011 a0001c0005t0001 a0001c0001t0001 a0001c0003t0011 a0001c0005t0001	a0001c0001t0001g0329 a0001c0003t0011g0012 a0001c0005t0001g0387 others(2): Show a0001c0001t0001g0329 a0001c0003t0011g0012 a0001c0005t0001g0387 a0001c0005t0001g0388 a0001c0005t0001g0389	5	402	0.0124	-14	c.144 others(31): Show c.1441-162_1441-149delGTGTGTGTGTGTAC	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX39A_chr19_14403798_14424341	14403864	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(60): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00741.hp2 HG01074.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 NA18942.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp2 NA18980.hp1 NA18984.hp1 NA18990.hp2 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19075.hp1 NA19083.hp2 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098	63	392	0.1607	-14	c.50 others(25): Show c.5058_*5071delAAAAAAAAAAAAAA	DDX39A	ENSG00000123136.15	transcript	ENST00000242776.9	protein_coding		4933		chr19	TogoVar
DDX39B_chr6_31525226_31547003	31525296	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00558.hp2 others(19): Show HG00099.hp2 HG00323.hp1 HG00558.hp2 HG01168.hp1 HG01169.hp2 HG02132.hp1 HG02698.hp2 HG02735.hp1 HG03490.hp2 HG03492.hp2 HG03834.hp1 HG04184.hp1 NA18612.hp1 NA18955.hp1 NA18965.hp1 NA18978.hp1 NA18981.hp2 NA19002.hp2 NA19055.hp1 NA19062.hp2 NA19065.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0018 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0091 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0059	22	445	0.0494	-14	c.51 others(25): Show c.5124_*5137delAAAAAAAAAAAAAA	DDX39B	ENSG00000198563.14	transcript	ENST00000396172.6	protein_coding		4929		chr6	TogoVar
DDX42_chr17_63769170_63824317	63789551	TTGTTTTT others(7): Show TTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(59): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG02004.hp2 HG02040.hp1 HG02109.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG06807.hp1 NA18747.hp1 NA18942.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18979.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18997.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 others(50): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0006g0093 a0001c0001t0006g0163 a0001c0001t0007g0003 a0001c0001t0007g0025 a0001c0001t0007g0142 a0001c0001t0008g0187 a0001c0001t0009g0103 a0001c0001t0012g0143 a0001c0001t0015g0186 a0001c0001t0018g0029 a0001c0001t0022g0160	62	332	0.1868	-14	c.221 others(31): Show c.221+2283_221+2296delGTTTTTGTTTTTGT	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DDX46_chr5_134753779_134836121	134787984	ACTGGGCA others(7): Show ACTGGGCAACAGAGC	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18963.hp2 NA18985.hp2 others(5): Show NA18946.hp2 NA18963.hp2 NA18985.hp2 NA18991.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0006 a0001c0001t0005g0001 a0001c0001t0005g0002 others(5): Show a0001c0001t0001g0006 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0007 a0001c0001t0005g0008	8	342	0.0234	-14	c.146 others(31): Show c.1465-515_1465-502delCCTGGGCAACAGAG	DDX46	ENSG00000145833.16	transcript	ENST00000452510.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX46_chr5_134753779_134836121	134787999	CTGGGCAA others(7): Show CTGGGCAACAGAGTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0025g0309 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0025g0309	3	342	0.0088	-14	c.146 others(31): Show c.1465-513_1465-500delTGGGCAACAGAGTG	DDX46	ENSG00000145833.16	transcript	ENST00000452510.7	protein_coding	11/22			chr5	TogoVar
DDX4_chr5_55733061_55822157	55796823	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00597.hp2 others(39): Show HG00140.hp1 HG00423.hp1 HG00597.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp1 HG01433.hp1 HG01517.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG03654.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18946.hp2 NA18949.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18993.hp1 NA19003.hp1 NA19010.hp2 NA19064.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0006t0001	a0001c0001t0001g0205 a0001c0002t0001g0036 a0001c0002t0001g0038 others(38): Show a0001c0001t0001g0205 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0122 a0002c0003t0001g0005 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0190 a0002c0003t0001g0191 a0002c0003t0001g0192 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0197 a0002c0003t0001g0198 a0002c0003t0001g0225 a0003c0006t0001g0194	42	346	0.1214	-14	c.147 others(33): Show c.1470-1582_1470-1569delTTTTTTTTTTTTTT	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX50_chr10_68896315_68951847	68936511	AAAAAATA others(7): Show AAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	334	0.0030	-14	c.159 others(31): Show c.1596-423_1596-410delAAAATATATATATA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68936513	AAAATATA others(7): Show AAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02976.hp1 others(2): Show HG02572.hp1 HG02622.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0098 a0001c0001t0001g0323 a0001c0002t0001g0268 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0323 a0001c0002t0001g0268 a0001c0002t0001g0272 a0001c0002t0001g0274	5	334	0.0150	-14	c.159 others(31): Show c.1596-421_1596-408delAATATATATATATA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX50_chr10_68896315_68951847	68936515	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02486.hp1 others(6): Show HG01891.hp2 HG02258.hp1 HG02486.hp1 HG02922.hp1 HG03453.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0192 a0001c0002t0001g0243 a0001c0002t0001g0263 others(6): Show a0001c0001t0001g0192 a0001c0002t0001g0243 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0270 a0001c0002t0001g0273 a0001c0005t0001g0271	9	334	0.0270	-14	c.159 others(31): Show c.1596-399_1596-386delTATATATATATATA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DDX51_chr12_132131594_132149319	132148684	CGGGGGCG others(7): Show CGGGGGCGGCATCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	-14	c.-44 others(25): Show c.-4402_-4389delCGGATGCCGCCCCC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4366		chr12	TogoVar
DDX52_chr17_37604739_37648446	37610290	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0240 a0002c0002t0036g0240	1	411	0.0024	-14	c.39 others(25): Show c.3992_*4005delAAAAAAAAAAAAAA	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	15/15	3992		chr17	TogoVar
DDX52_chr17_37604739_37648446	37629228	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00735.hp2 others(64): Show HG00438.hp2 HG00544.hp1 HG00735.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02809.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0002c0002t0009 others(11): Show a0001c0003t0001 a0002c0002t0001 a0002c0002t0009 a0002c0002t0016 a0002c0002t0023 a0002c0002t0032 a0002c0002t0053 a0002c0002t0063 a0002c0002t0064 a0002c0002t0066 a0002c0002t0067 a0002c0002t0069 a0002c0002t0070 a0002c0002t0094	a0001c0003t0001g0028 a0002c0002t0001g0004 a0002c0002t0001g0008 others(37): Show a0001c0003t0001g0028 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0203 a0002c0002t0001g0206 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0222 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0009g0202 a0002c0002t0009g0214 a0002c0002t0009g0219 a0002c0002t0009g0225 a0002c0002t0016g0241 a0002c0002t0023g0189 a0002c0002t0023g0205 a0002c0002t0032g0216 a0002c0002t0032g0224 a0002c0002t0053g0248 a0002c0002t0063g0223 a0002c0002t0064g0210 a0002c0002t0066g0200 a0002c0002t0067g0220 a0002c0002t0069g0207 a0002c0002t0070g0221 a0002c0002t0094g0217	67	411	0.1630	-14	c.748 others(29): Show c.748-570_748-557delGTGTGTGTGTGTGT	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	5/14			chr17	TogoVar
DDX54_chr12_113152173_113190478	113174205	CATAATCC others(7): Show CATAATCCCAGTACT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG03195.hp2 others(1): Show HG02559.hp1 HG02717.hp2 HG03195.hp2 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0023 a0002c0004t0005g0069 a0002c0004t0005g0070 a0002c0004t0005g0023 a0002c0004t0005g0069 a0002c0004t0005g0070	4	306	0.0131	-14	c.106 others(31): Show c.1068+421_1068+434delAGTACTGGGATTAT	DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	10/19			chr12	TogoVar
DDX54_chr12_113152173_113190478	113188787	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	306	0.0033	-14	c.-33 others(25): Show c.-3350_-3337delAAAAAAAAAAAAAA	DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding		3310		chr12	TogoVar
DDX55_chr12_123597099_123625943	123620580	TTATATAT others(7): Show TTATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0043 a0003c0003t0043	a0003c0003t0043g0003 a0003c0003t0043g0003	1	304	0.0033	-14	c.47 others(23): Show c.475_*488delTATATATATATATA	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding	14/14	475	INFO_REALIGN_3_PRIME	chr12	TogoVar
DDX60L_chr4_168351735_168485492	168416445	ATGGTAAT others(7): Show ATGGTAATGTACACC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0010 a0010	a0010c0044 a0010c0044	a0010c0044t0002 a0010c0044t0002	a0010c0044t0002g0072 a0010c0044t0002g0072	1	268	0.0037	-14	c.272 others(31): Show c.2726+223_2726+236delGGTGTACATTACCA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	20/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168297255	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0225 a0002c0007t0001g0225	1	270	0.0037	-14	c.724 others(31): Show c.724-3324_724-3311delTTCTTTCTTTCTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168297368	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19010.hp1 HG02273.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0165 a0001c0001t0001g0178	2	270	0.0074	-14	c.724 others(31): Show c.724-3437_724-3424delCTTTCTTTCTTTCT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DDX6_chr11_118742763_118796164	118745653	GACACACA others(7): Show GACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02165.hp2 HG02698.hp2 HG01346.hp2 HG02165.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0027 a0001c0001t0033 a0001c0001t0024 a0001c0001t0027 a0001c0001t0033	a0001c0001t0024g0150 a0001c0001t0027g0341 a0001c0001t0033g0190 a0001c0001t0024g0150 a0001c0001t0027g0341 a0001c0001t0033g0190	3	370	0.0081	-14	c.64 others(25): Show c.6438_*6451delGTGTGTGTGTGTGT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding		2109		chr11	TogoVar
DDX6_chr11_118742763_118796164	118775269	GCACACCA others(7): Show GCACACCATTGCACT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0353 a0001c0001t0003g0353	1	370	0.0027	-14	c.369 others(31): Show c.369+4349_369+4362delAGTGCAATGGTGTG	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	4/13			chr11	TogoVar
DDX6_chr11_118742763_118796164	118795644	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	370	0.0027	-14	c.-48 others(25): Show c.-4828_-4815delCTTTTTTTTTTTTT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding		4481		chr11	TogoVar
DEAF1_chr11_639233_700222	653083	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0308 a0001c0002t0001g0311	2	345	0.0058	-14	c.159 others(31): Show c.1593+865_1593+878delTTTTTTTTTTTTTT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DECR1_chr8_89996477_90058633	90001440	CCCTGCGC others(7): Show CCCTGCGCCCAACCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18990.hp1 NA18985.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0092 a0001c0001t0001g0060 a0001c0001t0001g0092	2	378	0.0053	-14	c.-52 others(21): Show c.-52_-39delCCTGCGCCCAACCG	DECR1	ENSG00000104325.7	transcript	ENST00000220764.7	protein_coding		36		chr8	TogoVar
DECR2_chr16_396885_417482	408055	CCCTCTGT others(7): Show CCCTCTGTCTCCGGG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp1 NA19087.hp2 HG02717.hp2 NA19030.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0146 a0002c0002t0001g0039 a0002c0002t0001g0146	3	367	0.0082	-14	c.337 others(29): Show c.337+498_337+511delTCTGTCTCCGGGCC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	408081	GGGCCCCT others(7): Show GGGCCCCTGTCTCCA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19043.hp1 NA18984.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0071 a0001c0001t0004g0158 a0001c0001t0003g0071 a0001c0001t0004g0158	2	367	0.0055	-14	c.337 others(29): Show c.337+523_337+536delGCCCCTGTCTCCAG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	408156	CCTGTCTC others(7): Show CCTGTCTCCGGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp2 HG03453.hp2 others(8): Show HG02717.hp2 HG02809.hp2 HG03453.hp2 NA18947.hp1 NA18948.hp2 NA18959.hp2 NA18962.hp1 NA19030.hp1 NA19064.hp2 NA19080.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0039 a0002c0002t0001g0109 others(3): Show a0002c0002t0001g0011 a0002c0002t0001g0039 a0002c0002t0001g0109 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0161	11	367	0.0300	-14	c.337 others(29): Show c.337+621_337+634delGCCTCTGTCTCCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	408372	TGGCCCTC others(7): Show TGGCCCTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0163 a0006c0016t0001g0163	1	367	0.0027	-14	c.337 others(29): Show c.337+817_337+830delCTCTGTCTCCGGCC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFB106B_chr8_7477504_7491400	7481995	TGGGGGGA others(7): Show TGGGGGGAGGGGGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	180	0.0056	-14	c.59 others(23): Show c.595_*608delTTCCCCCTCCCCCC	DEFB106B	ENSG00000187082.2	transcript	ENST00000335479.2	protein_coding		508		chr8	TogoVar
DEFB107A_chr8_7806720_7820716	7809593	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01071.hp1 others(16): Show HG00280.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG02055.hp2 HG02129.hp1 HG02622.hp1 HG02922.hp2 HG03209.hp1 HG03579.hp2 HG03654.hp2 HG06807.hp2 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0089 others(9): Show a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0039 a0001c0001t0002g0059 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0091 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0026 a0002c0002t0002g0036	19	170	0.1118	-14	c.22 others(25): Show c.2201_*2214delAAAAAAAAAAAAAA	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding		2126		chr8	TogoVar
DEFB108B_chr11_71828200_71842710	71836950	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0071 a0007c0008t0001g0071	1	440	0.0023	-14	c.59- others(27): Show c.59-439_59-426delGTGTCTGTGTGTGT	DEFB108B	ENSG00000184276.3	transcript	ENST00000328698.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
DEFB123_chr20_31435632_31455257	31450570	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	372	0.0027	-14	c.39 others(23): Show c.397_*410delTTTTTTTTTTTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding		314		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31462583	ATTTATTT others(7): Show ATTTATTTATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG02896.hp1 others(1): Show HG01891.hp1 HG02809.hp1 HG02896.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0012 a0001c0001t0002g0121 a0001c0001t0002g0122	4	362	0.0111	-14	c.29 others(25): Show c.2909_*2922delAAAAAATAAATAAA	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		2887		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31472425	GGGGAGAG others(7): Show GGGGAGAGGGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	362	0.0028	-14	c.58+ others(27): Show c.58+517_58+530delTTCTCCCCTCTCCC	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB127_chr20_152454_164163	157927	ATATATGT others(7): Show ATATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp2 HG02040.hp2 others(21): Show HG00558.hp2 HG02015.hp2 HG02040.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02683.hp2 NA18747.hp1 NA18949.hp2 NA18959.hp2 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA19010.hp1 NA19054.hp1 NA19059.hp1 NA19066.hp2 NA19080.hp1 NA19083.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	24	450	0.0533	-14	c.49+ others(27): Show c.49+336_49+349delATATGTGTGTGTGT	DEFB127	ENSG00000088782.5	transcript	ENST00000382388.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr20	TogoVar
DEFB134_chr8_11988174_12005752	12001878	CTCTCTCT others(7): Show CTCTCTCTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(62): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02040.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18997.hp1 NA19006.hp1 NA19009.hp2 NA19066.hp1 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0007	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0026 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0070 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0022 a0001c0001t0003g0054 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0083 a0001c0001t0003g0115 a0001c0001t0004g0021 a0001c0001t0004g0036 a0001c0001t0005g0075 a0001c0002t0007g0065 a0001c0002t0007g0079	65	448	0.1451	-14	c.-12 others(25): Show c.-1232_-1219delAAGAAAGAGAGAGA	DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding		1127		chr8	TogoVar
DEFB1_chr8_6865592_6882936	6875064	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0088 a0001c0004t0007g0088	1	478	0.0021	-14	c.61+ others(29): Show c.61+2719_61+2732delTGTGTGTGTGTGTG	DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding	1/1			chr8	TogoVar
DEGS1_chr1_224178240_224198441	224184970	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03579.hp1 HG03017.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0155 a0001c0001t0018g0066 a0001c0001t0002g0155 a0001c0001t0018g0066	2	426	0.0047	-14	c.82+ others(29): Show c.82+1575_82+1588delACACACACACACAC	DEGS1	ENSG00000143753.14	transcript	ENST00000323699.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
DEGS2_chr14_100138957_100164645	100151013	ACTCTGGG others(7): Show ACTCTGGGCTGTTTC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0048 a0009c0016t0048	a0009c0016t0048g0142 a0009c0016t0048g0142	1	440	0.0023	-14	c.83- others(29): Show c.83-1317_83-1304delGAAACAGCCCAGAG	DEGS2	ENSG00000168350.8	transcript	ENST00000305631.7	protein_coding	1/2			chr14	TogoVar
DENND11_chr7_141651728_141707166	141685029	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0144 a0001c0001t0026g0144	1	345	0.0029	-14	c.527 others(29): Show c.527+435_527+448delATATATATATATAT	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding	3/8			chr7	TogoVar
DENND1A_chr9_123374658_123935126	123514096	GTATGTGT others(7): Show GTATGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp2 HG01099.hp2 others(7): Show HG00558.hp2 HG01069.hp2 HG01099.hp2 HG02056.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG03017.hp1 HG03195.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0007 a0002c0015 a0003c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0005t0005 a0002c0007t0001 a0002c0015t0011 a0003c0010t0002	a0001c0001t0001g0049 a0001c0002t0001g0043 a0001c0002t0002g0066 others(7): Show a0001c0001t0001g0049 a0001c0002t0001g0043 a0001c0002t0002g0066 a0001c0002t0003g0022 a0001c0002t0017g0090 a0001c0005t0005g0130 a0001c0005t0005g0131 a0002c0007t0001g0121 a0002c0015t0011g0161 a0003c0010t0002g0101	10	162	0.0617	-14	c.993 others(33): Show c.993+43460_993+43473delGACACACACACATA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123516107	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00639.hp2 others(54): Show HG00140.hp2 HG00597.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18945.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0002c0007 a0002c0015 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0005t0005 a0001c0009t0001 a0001c0016t0001 a0001c0017t0002 a0002c0007t0001 a0002c0015t0011 a0003c0010t0002	a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0060 others(54): Show a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0155 a0001c0001t0003g0132 a0001c0001t0012g0127 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0041 a0001c0002t0002g0106 a0001c0002t0002g0146 a0001c0002t0003g0022 a0001c0002t0003g0102 a0001c0002t0004g0018 a0001c0002t0004g0042 a0001c0002t0004g0088 a0001c0002t0012g0016 a0001c0002t0017g0090 a0001c0002t0018g0028 a0001c0002t0020g0017 a0001c0005t0005g0123 a0001c0005t0005g0125 a0001c0005t0005g0128 a0001c0005t0005g0130 a0001c0005t0005g0131 a0001c0005t0005g0133 a0001c0005t0005g0134 a0001c0009t0001g0008 a0001c0009t0001g0108 a0001c0016t0001g0006 a0001c0017t0002g0025 a0002c0007t0001g0121 a0002c0015t0011g0161 a0003c0010t0002g0101	57	162	0.3519	-14	c.993 others(33): Show c.993+41449_993+41462delGTGTGTGTGTGTGT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123531552	TCTACACA others(7): Show TCTACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02280.hp2 others(5): Show HG01109.hp1 HG01884.hp2 HG02280.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp1 HG03486.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 others(5): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0003g0050 a0001c0001t0003g0076 a0001c0001t0003g0138 a0001c0001t0003g0152 a0001c0001t0003g0157	8	162	0.0494	-14	c.993 others(33): Show c.993+26004_993+26017delGTGTGTGTGTGTAG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123538805	CATACATA others(7): Show CATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02486.hp2 others(2): Show HG02109.hp1 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 a0001c0005t0005 a0001c0006t0011	a0001c0001t0001g0077 a0001c0001t0013g0139 a0001c0004t0001g0122 others(2): Show a0001c0001t0001g0077 a0001c0001t0013g0139 a0001c0004t0001g0122 a0001c0005t0005g0123 a0001c0006t0011g0162	5	162	0.0309	-14	c.993 others(33): Show c.993+18751_993+18764delATATATATATGTAT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123607514	CACACACA others(7): Show CACACACAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	162	0.0062	-14	c.765 others(31): Show c.765+1908_765+1921delCTCTCTCTGTGTGT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	11/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123674342	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03704.hp2 HG02273.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0152 a0001c0001t0003g0143 a0001c0001t0003g0152	2	162	0.0124	-14	c.372 others(31): Show c.372+2364_372+2377delTGTGTGTGTGTGTG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	6/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123738443	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02109.hp2 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0001 a0002c0007t0001 a0001c0004t0001 a0002c0007t0001	a0001c0004t0001g0122 a0002c0007t0001g0121 a0001c0004t0001g0122 a0002c0007t0001g0121	2	162	0.0124	-14	c.302 others(33): Show c.302+19246_302+19259delCACACACACACACA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123902161	TCACACAC others(7): Show TCACACACACACATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0001	a0006c0021t0001g0065 a0006c0021t0001g0065	1	162	0.0062	-14	c.18- others(31): Show c.18-23154_18-23141delTATGTGTGTGTGTG	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	1/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197529230	ATATATAT others(7): Show ATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02723.hp2 HG00280.hp2 HG02723.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0049 a0001c0001t0001 a0006c0011t0049	a0001c0001t0001g0194 a0006c0011t0049g0111 a0001c0001t0001g0194 a0006c0011t0049g0111	2	280	0.0071	-14	c.151 others(35): Show c.1515+10720_1515+10733delCATATATATATATA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	20/22			chr1	TogoVar

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